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Results: 1 to 20 of 22

1.

Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.

Liegel RP, Handley MT, Ronchetti A, Brown S, Langemeyer L, Linford A, Chang B, Morris-Rosendahl DJ, Carpanini S, Posmyk R, Harthill V, Sheridan E, Abdel-Salam GM, Terhal PA, Faravelli F, Accorsi P, Giordano L, Pinelli L, Hartmann B, Ebert AD, Barr FA, Aligianis IA, Sidjanin DJ.

Am J Hum Genet. 2013 Dec 5;93(6):1001-14. doi: 10.1016/j.ajhg.2013.10.011. Epub 2013 Nov 14.

PMID:
24239381
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Functional analysis of HSF4 mutations found in patients with autosomal recessive congenital cataracts.

Merath K, Ronchetti A, Sidjanin DJ.

Invest Ophthalmol Vis Sci. 2013 Oct 11;54(10):6646-54. doi: 10.1167/iovs.13-12283.

PMID:
24045990
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

ADAM17 transactivates EGFR signaling during embryonic eyelid closure.

Hassemer EL, Endres B, Toonen JA, Ronchetti A, Dubielzig R, Sidjanin DJ.

Invest Ophthalmol Vis Sci. 2013 Jan 7;54(1):132-40. doi: 10.1167/iovs.12-11130.

PMID:
23211830
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Waved with open eyelids 2 (woe2) is a novel spontaneous mouse mutation in the protein phosphatase 1, regulatory (inhibitor) subunit 13 like (Ppp1r13l) gene.

Toonen J, Liang L, Sidjanin DJ.

BMC Genet. 2012 Aug 28;13:76. doi: 10.1186/1471-2156-13-76.

PMID:
22928477
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Functional analysis of the Hsf4(lop11) allele responsible for cataracts in lop11 mice.

Liang L, Liegel R, Endres B, Ronchetti A, Chang B, Sidjanin DJ.

Mol Vis. 2011;17:3062-71. Epub 2011 Nov 23.

PMID:
22162625
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

A spontaneous mutation in Srebf2 leads to cataracts and persistent skin wounds in the lens opacity 13 (lop13) mouse.

Merath KM, Chang B, Dubielzig R, Jeannotte R, Sidjanin DJ.

Mamm Genome. 2011 Dec;22(11-12):661-73. doi: 10.1007/s00335-011-9354-2. Epub 2011 Aug 21.

PMID:
21858719
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Blind sterile 2 (bs2), a hypomorphic mutation in Agps, results in cataracts and male sterility in mice.

Liegel R, Chang B, Dubielzig R, Sidjanin DJ.

Mol Genet Metab. 2011 May;103(1):51-9. doi: 10.1016/j.ymgme.2011.02.002. Epub 2011 Feb 25.

PMID:
21353609
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

The waved with open eyelids (woe) locus is a hypomorphic mouse mutation in Adam17.

Hassemer EL, Le Gall SM, Liegel R, McNally M, Chang B, Zeiss CJ, Dubielzig RD, Horiuchi K, Kimura T, Okada Y, Blobel CP, Sidjanin DJ.

Genetics. 2010 May;185(1):245-55. doi: 10.1534/genetics.109.113167. Epub 2010 Mar 1.

PMID:
20194968
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Genetic and clinical evaluation of juvenile retinoschisis.

Kim JE, Ruttum MS, Koeberl MJ, Hassemer EL, Sidjanin DJ.

J AAPOS. 2009 Apr;13(2):215-7. doi: 10.1016/j.jaapos.2008.11.005.

PMID:
19393523
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Pharmacogenetics of ophthalmic topical beta-blockers.

Sidjanin DJ, McCarty CA, Patchett R, Smith E, Wilke RA.

Per Med. 2008;5(4):377-385.

PMID:
19266054
[PubMed]
Free PMC Article
11.

Identification of two novel mutations in families with X-linked ocular albinism.

Iannaccone A, Gallaher KT, Buchholz J, Jennings BJ, Neitz M, Sidjanin DJ.

Mol Vis. 2007 Oct 2;13:1856-61.

PMID:
17960122
[PubMed - indexed for MEDLINE]
Free Article
12.

Cloning and characterization of canine PAX6 and evaluation as a candidate gene in a canine model of aniridia.

Hunter LS, Sidjanin DJ, Hijar MV, Johnson JL, Kirkness E, Acland GM, Aguirre GD.

Mol Vis. 2007 Mar 26;13:431-42.

PMID:
17417604
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod-cone degeneration interval and identifies ancestral disease-transmitting chromosome.

Goldstein O, Zangerl B, Pearce-Kelling S, Sidjanin DJ, Kijas JW, Felix J, Acland GM, Aguirre GD.

Genomics. 2006 Nov;88(5):541-50. Epub 2006 Jul 20.

PMID:
16859891
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Radiation hybrid mapping of cataract genes in the dog.

Hunter LS, Sidjanin DJ, Johnson JL, Zangerl B, Galibert F, Andre C, Kirkness E, Talamas E, Acland GM, Aguirre GD.

Mol Vis. 2006 May 24;12:588-96.

PMID:
16760895
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Early transposable element insertion in intron 9 of the Hsf4 gene results in autosomal recessive cataracts in lop11 and ldis1 mice.

Talamas E, Jackson L, Koeberl M, Jackson T, McElwee JL, Hawes NL, Chang B, Jablonski MM, Sidjanin DJ.

Genomics. 2006 Jul;88(1):44-51. Epub 2006 Apr 3.

PMID:
16595169
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Cloning of canine galactokinase (GALK1) and evaluation as a candidate gene for hereditary cataracts in Labrador retrievers.

Sidjanin DJ, McElwee J, Miller B, Aguirre GD.

Anim Genet. 2005 Jun;36(3):265-6. No abstract available.

PMID:
15932415
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Radiation hybrid map, physical map, and low-pass genomic sequence of the canine prcd region on CFA9 and comparative mapping with the syntenic region on human chromosome 17.

Sidjanin DJ, Miller B, Kijas J, McElwee J, Pillardy J, Malek J, Pai G, Feldblyum T, Fraser C, Acland G, Aguirre G.

Genomics. 2003 Feb;81(2):138-48.

PMID:
12620391
[PubMed - indexed for MEDLINE]
18.

Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3.

Sidjanin DJ, Lowe JK, McElwee JL, Milne BS, Phippen TM, Sargan DR, Aguirre GD, Acland GM, Ostrander EA.

Hum Mol Genet. 2002 Aug 1;11(16):1823-33.

PMID:
12140185
[PubMed - indexed for MEDLINE]
Free Article
19.

Cloning of the canine delta tubulin cDNA (TUBD) and mapping to CFA9.

Sidjanin DJ, Zangerl B, Johnson JL, Xue F, Mellersh C, Ostrander EA, Acland G, Aguirre GD.

Anim Genet. 2002 Apr;33(2):161-2. No abstract available.

PMID:
12047234
[PubMed - indexed for MEDLINE]
20.

Cloning of canine gamma-tubulin (TUBG1) cDNA and mapping to CFA9.

Sidjanin DJ, Xue F, McElwee J, Johnson JL, Holmgren C, Mellersh C, Ostrander E, Acland G, Aguirre GD.

Anim Genet. 2001 Oct;32(5):328-9. No abstract available.

PMID:
11683730
[PubMed - indexed for MEDLINE]

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